Use of the Sentieon’s DNAScope algorithm for variant calling
- What it does: DNAScope is one of Sentieon’s variant calling algorithms that replaces the existing Haplotyper algorithm in the Tapestri Pipeline. It has improved active region detection and local de-novo assembly steps.
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Key Highlights:
- Better variant calling sensitivity and accuracy.
- Better recovery of missing variant calls, especially for long indel variants.
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Better genome-wide CNV clone calling
- Updated CNV clone calling algorithm that estimates the median copy number instead of using 2 as default. As a result, the sensitivity of detecting clones with gain/loss has increased.